Incidental Mutation 'IGL02047:Btbd7'
ID 184970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btbd7
Ensembl Gene ENSMUSG00000041702
Gene Name BTB (POZ) domain containing 7
Synonyms FUP1, E130118E17Rik, 5730507E09Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.336) question?
Stock # IGL02047
Quality Score
Status
Chromosome 12
Chromosomal Location 102780797-102878471 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102793779 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 637 (S637G)
Ref Sequence ENSEMBL: ENSMUSP00000152426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045652] [ENSMUST00000223554]
AlphaFold Q8CFE5
Predicted Effect probably benign
Transcript: ENSMUST00000045652
AA Change: S637G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: S637G

DomainStartEndE-ValueType
BTB 142 244 1.57e-13 SMART
BTB 247 397 2.23e-4 SMART
BACK 402 538 1.49e-4 SMART
low complexity region 626 640 N/A INTRINSIC
low complexity region 756 771 N/A INTRINSIC
low complexity region 783 792 N/A INTRINSIC
low complexity region 808 822 N/A INTRINSIC
low complexity region 839 850 N/A INTRINSIC
low complexity region 1076 1088 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223554
AA Change: S637G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik C T 17: 33,067,301 V176M probably damaging Het
A730049H05Rik G T 6: 92,831,928 probably benign Het
Ank3 A G 10: 69,892,494 N681S possibly damaging Het
Arpp19 T G 9: 75,056,776 S137A probably damaging Het
Bmp2 T C 2: 133,560,976 L149P probably damaging Het
Bpifb1 T C 2: 154,202,616 M1T probably null Het
Cyp51 T A 5: 4,099,244 H211L possibly damaging Het
Cyth1 C A 11: 118,169,132 Q333H probably damaging Het
Dennd5a G A 7: 109,934,784 T67M possibly damaging Het
Dse A T 10: 34,162,845 Y51* probably null Het
Dynlt3 A T X: 9,656,426 Y76* probably null Het
Fabp12 T C 3: 10,247,718 probably benign Het
Galr1 A T 18: 82,405,993 L53Q probably damaging Het
Igkv4-70 A T 6: 69,267,927 D103E probably damaging Het
Il2 T C 3: 37,125,851 N19S probably benign Het
Jhy T C 9: 40,917,180 I477V probably benign Het
Kcnk4 A G 19: 6,926,258 S308P probably benign Het
Lipo3 A T 19: 33,557,162 I299K probably benign Het
Mark3 T A 12: 111,618,363 I131N probably damaging Het
Msr1 A G 8: 39,623,960 V137A probably benign Het
Nf1 T A 11: 79,425,535 V482E probably benign Het
Pcsk1 T C 13: 75,097,989 V162A probably benign Het
Plekhb1 A G 7: 100,655,299 V47A probably damaging Het
R3hcc1l G A 19: 42,563,819 M418I probably benign Het
Slc24a4 T C 12: 102,254,623 F438L probably damaging Het
Slc38a5 G T X: 8,273,640 V127L possibly damaging Het
Szt2 A G 4: 118,376,637 probably benign Het
Tdh A T 14: 63,496,958 H80Q probably benign Het
Tshz3 A C 7: 36,770,468 K627N probably damaging Het
Usp28 C T 9: 49,035,641 P791S probably damaging Het
Wdr81 A G 11: 75,445,506 Y1686H probably damaging Het
Xpot G T 10: 121,601,362 probably benign Het
Zfand4 G A 6: 116,314,928 G627R probably damaging Het
Other mutations in Btbd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02899:Btbd7 APN 12 102837662 missense probably damaging 1.00
IGL03204:Btbd7 APN 12 102807980 nonsense probably null
H8562:Btbd7 UTSW 12 102788302 missense probably benign 0.26
IGL03050:Btbd7 UTSW 12 102812806 missense probably benign 0.03
R1262:Btbd7 UTSW 12 102787951 missense probably benign
R1423:Btbd7 UTSW 12 102785475 missense possibly damaging 0.49
R1437:Btbd7 UTSW 12 102788090 missense possibly damaging 0.59
R1636:Btbd7 UTSW 12 102793851 missense probably damaging 1.00
R1641:Btbd7 UTSW 12 102790775 missense probably damaging 1.00
R1722:Btbd7 UTSW 12 102812654 missense possibly damaging 0.96
R1921:Btbd7 UTSW 12 102793796 missense probably benign 0.01
R2021:Btbd7 UTSW 12 102790709 missense probably damaging 1.00
R2180:Btbd7 UTSW 12 102785897 missense probably damaging 1.00
R3768:Btbd7 UTSW 12 102795192 missense probably damaging 1.00
R3770:Btbd7 UTSW 12 102795192 missense probably damaging 1.00
R3786:Btbd7 UTSW 12 102838152 missense probably benign 0.22
R4396:Btbd7 UTSW 12 102785293 missense probably benign 0.00
R4809:Btbd7 UTSW 12 102793744 critical splice donor site probably null
R4910:Btbd7 UTSW 12 102808048 missense probably damaging 0.98
R4915:Btbd7 UTSW 12 102837787 nonsense probably null
R5054:Btbd7 UTSW 12 102838212 missense probably benign 0.02
R5276:Btbd7 UTSW 12 102838392 missense probably benign 0.00
R5387:Btbd7 UTSW 12 102837785 missense probably damaging 0.99
R5665:Btbd7 UTSW 12 102785197 missense probably benign
R7083:Btbd7 UTSW 12 102788335 missense probably damaging 0.99
R7354:Btbd7 UTSW 12 102838205 missense probably benign 0.05
R7429:Btbd7 UTSW 12 102837780 missense probably damaging 1.00
R7462:Btbd7 UTSW 12 102837722 missense possibly damaging 0.88
R7469:Btbd7 UTSW 12 102812768 missense probably damaging 0.99
R7998:Btbd7 UTSW 12 102795240 missense probably damaging 1.00
R8499:Btbd7 UTSW 12 102788372 missense probably damaging 1.00
R8773:Btbd7 UTSW 12 102837982 missense probably benign 0.02
R8783:Btbd7 UTSW 12 102788242 missense probably benign 0.45
R8968:Btbd7 UTSW 12 102812766 missense probably damaging 1.00
R9016:Btbd7 UTSW 12 102785158 missense probably damaging 1.00
R9027:Btbd7 UTSW 12 102838579 missense probably damaging 1.00
R9216:Btbd7 UTSW 12 102795304 missense probably damaging 1.00
R9221:Btbd7 UTSW 12 102811171 missense probably damaging 1.00
X0024:Btbd7 UTSW 12 102812686 nonsense probably null
X0025:Btbd7 UTSW 12 102811164 missense probably benign 0.06
Z1177:Btbd7 UTSW 12 102811120 missense probably damaging 1.00
Posted On 2014-05-07